Short Description

NGS genetic DNA test detecets for variant and mutation detection in GDNF gene for Central hypoventilation syndrome, congenital

PreTest Information

Clinical History of Patient who is going for GDNF Gene Central hypoventilation syndrome, congenital NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GDNF Gene Central hypoventilation syndrome, congenital NGS Genetic DNA Test gene GDNF

Detail Description

GDNF Gene Central Hypoventilation Syndrome: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

GDNF (Glial cell line-derived neurotrophic factor) is a gene that plays a crucial role in the development of the nervous system. When this gene is mutated, it can lead to Central Hypoventilation Syndrome (CHS), which is a rare genetic disorder that affects breathing. CHS is also known as Ondine's curse, which is a reference to a mythological character who was cursed to forget to breathe while sleeping.

Symptoms of GDNF Gene Central Hypoventilation Syndrome

The symptoms of CHS may not appear at birth, but they usually become apparent within the first few months of life. The most common symptom of CHS is respiratory failure, which occurs when the person stops breathing during sleep. Other symptoms of CHS may include:

• Difficulty breathing
• Weakness
• Fatigue
• Difficulty swallowing
• Speech problems
• Abnormal sweating
• Bluish skin color
• Abnormally low levels of oxygen in the blood

Diagnosis of GDNF Gene Central Hypoventilation Syndrome

Diagnosing CHS can be challenging because it is a rare disorder. A doctor may suspect CHS if a child has respiratory problems during sleep or if they have a family history of the disorder. To confirm the diagnosis, a doctor may perform a sleep study or a genetic test. The genetic test will look for mutations in the GDNF gene.

NGS Genetic DNA Test Cost

The cost of the NGS genetic DNA test for GDNF gene mutations in India is around INR 20,000. This test uses Next-Generation Sequencing (NGS) technology to sequence the entire GDNF gene and identify any mutations. The test requires a blood sample, and the results usually take a few weeks to come back.

Conclusion

GDNF Gene Central Hypoventilation Syndrome is a rare disorder that can affect breathing. The symptoms of CHS may not appear at birth, but they usually become apparent within the first few months of life. Diagnosing CHS can be challenging, but a genetic test can confirm the diagnosis. The cost of the NGS genetic DNA test for GDNF gene mutations in India is around INR 20,000. If you suspect that your child has CHS or if you have a family history of the disorder, it is essential to speak with a doctor to get the right diagnosis and treatment.

At DNA Labs India, we offer a comprehensive range of genetic tests, including the NGS genetic DNA test for GDNF gene mutations. Our team of experts is committed to providing accurate and timely results to our clients. Contact us today to learn more about our services and how we can help you.